PDF(Pubmed)
Abstract：
UNASSIGNED: Dilated cardiomyopathy (DCM) contributes significantly to heart failure prevalence, yet supporting epidemiologic data is sparse. This study sought to estimate the period prevalence of DCM and the proportion of idiopathic DCM in the United States using a large, diverse electronic health records (EHR) database.
UNASSIGNED: This retrospective, observational study included 56,812,806 deidentified patients in Optum EHR with visits between 2017 and 2019. Suspected DCM cases were identified using ICD-10 coding. Deidentified clinical notes from 1000 randomly selected cases were manually reviewed to determine the diagnosis of DCM and estimate the proportion of idiopathic DCM. The period prevalence and clinical burden of DCM and idiopathic DCM were estimated.
UNASSIGNED: Manual clinical review demonstrated that our definition had a positive predictive value of 92.5% for DCM, with 46.3% estimated as the idiopathic DCM proportion. The estimated period prevalence of DCM between 2017 and 2019 was 118.33 per 100,000. Prevalence increased for adults ≥65 years of age, males, and African Americans. Extrapolation to the 2019 US population led to an overall estimated burden of roughly 388,350 patients. Adjusting for the proportion of cases with idiopathic DCM yielded an idiopathic DCM prevalence of 59.23 per 100,000 and a burden of 194,385 patients. Evidence of clinical genetic testing in this population was scarce, with less than 0.43% of DCM cases reporting a testing code.
UNASSIGNED: This study establishes a conservative period prevalence for DCM and idiopathic DCM and demonstrates very low molecular genetic testing for DCM. These findings suggest that the clinical burden of genetic DCM may be underestimated.
UNASSIGNED: This retrospective, observational study included 56,812,806 deidentified patients in Optum EHR with visits between 2017 and 2019. Suspected DCM cases were identified using ICD-10 coding. Deidentified clinical notes from 1000 randomly selected cases were manually reviewed to determine the diagnosis of DCM and estimate the proportion of idiopathic DCM. The period prevalence and clinical burden of DCM and idiopathic DCM were estimated.
UNASSIGNED: Manual clinical review demonstrated that our definition had a positive predictive value of 92.5% for DCM, with 46.3% estimated as the idiopathic DCM proportion. The estimated period prevalence of DCM between 2017 and 2019 was 118.33 per 100,000. Prevalence increased for adults ≥65 years of age, males, and African Americans. Extrapolation to the 2019 US population led to an overall estimated burden of roughly 388,350 patients. Adjusting for the proportion of cases with idiopathic DCM yielded an idiopathic DCM prevalence of 59.23 per 100,000 and a burden of 194,385 patients. Evidence of clinical genetic testing in this population was scarce, with less than 0.43% of DCM cases reporting a testing code.
UNASSIGNED: This study establishes a conservative period prevalence for DCM and idiopathic DCM and demonstrates very low molecular genetic testing for DCM. These findings suggest that the clinical burden of genetic DCM may be underestimated.
摘要：
■扩张型心肌病（DCM）对心力衰竭的患病率有重要贡献，然而，支持流行病学数据很少。这项研究试图估计DCM的患病率和特发性DCM在美国的比例，多样化的电子健康记录(EHR)数据库。
■这次回顾展，观察性研究包括2017年至2019年在OptumEHR中进行访视的56,812,806例患者。使用ICD-10编码鉴定疑似DCM病例。从1000例随机选择的病例中进行鉴定的临床注释，以手动审查以确定DCM的诊断并估计特发性DCM的比例。估计了DCM和特发性DCM的时期患病率和临床负担。
■手动临床审查表明，我们的定义对DCM的阳性预测值为92.5％，特发性DCM比例估计为46.3%。2017年至2019年期间DCM的估计患病率为每100,000人中118.33人。≥65岁的成年人患病率增加，男性,和非洲裔美国人。对2019年美国人口的推断导致约388350名患者的总体负担。调整特发性DCM病例的比例，特发性DCM患病率为每100,000人中59.23人，负担194,385人。在这个人群中进行临床基因检测的证据很少，少于0.43%的DCM病例报告测试代码。
■本研究确立了DCM和特发性DCM的保守期患病率，并证明了DCM的低分子基因检测。这些发现表明，遗传性DCM的临床负担可能被低估了。
■这次回顾展，观察性研究包括2017年至2019年在OptumEHR中进行访视的56,812,806例患者。使用ICD-10编码鉴定疑似DCM病例。从1000例随机选择的病例中进行鉴定的临床注释，以手动审查以确定DCM的诊断并估计特发性DCM的比例。估计了DCM和特发性DCM的时期患病率和临床负担。
■手动临床审查表明，我们的定义对DCM的阳性预测值为92.5％，特发性DCM比例估计为46.3%。2017年至2019年期间DCM的估计患病率为每100,000人中118.33人。≥65岁的成年人患病率增加，男性,和非洲裔美国人。对2019年美国人口的推断导致约388350名患者的总体负担。调整特发性DCM病例的比例，特发性DCM患病率为每100,000人中59.23人，负担194,385人。在这个人群中进行临床基因检测的证据很少，少于0.43%的DCM病例报告测试代码。
■本研究确立了DCM和特发性DCM的保守期患病率，并证明了DCM的低分子基因检测。这些发现表明，遗传性DCM的临床负担可能被低估了。
